Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5’ end of TRPS1. Based...

ver descrição completa

Detalhes bibliográficos
Autor principal: David, Dezső (author)
Outros Autores: Marques, Bárbara (author), Ferreira, Cristina (author), Araújo, Carlos (author), Vieira, Luís (author), Soares, Gabriela (author), Dias, Cristina (author), Pinto, Maximina (author)
Formato: article
Idioma:eng
Publicado em: 2014
Assuntos:
Doenças Genéticas
Trichorhinophalangeal Syndrome
t(8;13)(q23.3;q21.31)
Gene Expression
Texto completo:http://hdl.handle.net/10400.18/2229
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2229

Texto Completo

http://hdl.handle.net/10400.18/2229

Registos relacionados